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Details
Link-It Detail - Human Phenotype - Abnormality of renal physiology
Debug Stats
  • ### Total Build Time: 35 ms 36.221 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 241 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 793 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 6.869 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.034 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 23.937 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of renal physiology HP:0000082
Definition (1)
An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203).
Parents (2)
img Abnormality of the urinary system physiology HP:0011277
img Abnormality of the kidney HP:0000077
Children (21)
img Renal Fanconi syndrome HP:0001994
img Polyuria HP:0000103
img Urine concentration defect HP:0005568
img Urinary tract infections HP:0000094
img Renal insufficiency, progressive HP:0001918
img Renal insufficiency HP:0000083
img Impaired renal uric acid clearance HP:0004732
img Urinary retention HP:0000016
img Rapid loss of renal function HP:0008671
img Abnormality of renal resorption HP:0011038
img Renal tubular dysfunction HP:0000124
img Increased renal tubular phosphate reabsorption HP:0005571
img Reduced creatinine clearance HP:0000120
img Renal salt wasting HP:0000127
img Renal magnesium wasting HP:0005567
img Decreased renal tubular phosphate excretion HP:0005572
img Impaired reabsorption of chloride HP:0005579
img Impaired renal function HP:0000087
img Nephrotic syndrome HP:0000100
img Pollakisuria HP:0100515
img Abnormality of renal excretion HP:0011036
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the urinary system physiology HP:0011277
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the kidney HP:0000077
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the kidney HP:0000077
Genes (330)

Species:
human : 330
Page Size
Current 25
  Page 1 of 14
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanHNFJ3100689490Hyperuricemic nephropathy, familial juvenile, 3
img HP RolledUp, OMIM ID: 614227
HumanGFND1100689213Glomerulopathy with fibronectin deposits 1
img HP RolledUp, OMIM ID: 137950
HumanIGAN2100653384IgA nephropathy, susceptibility to, 2
img HP RolledUp, OMIM ID: 613944
HumanMMRFCGU100529147Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
img HP RolledUp, OMIM ID: 613680
HumanDEL11P13100528024Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
img HP RolledUp, OMIM ID: 194072
HumanAMMEC100499260Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
img HP RolledUp, OMIM ID: 300194
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
img HP RolledUp, OMIM ID: 606528
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanSHFM3100049542Split-hand/foot malformation 3
img HP RolledUp, OMIM ID: 246560
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
img HP RolledUp, OMIM ID: 300519
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanWG474168Wegener granulomatosis
img HP RolledUp, OMIM ID: 608710
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img HP RolledUp, OMIM ID: 203300
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP RolledUp, OMIM ID: 181270
HumanNEK8284086NIMA-related kinase 8
img HP RolledUp, OMIM ID: 613824
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
img HP RolledUp, OMIM ID: 300519
HumanNPHP4261734nephronophthisis 4
img HP RolledUp, OMIM ID: 606996
img HP RolledUp, OMIM ID: 606966
HumanSLSN3260432Senior-Loken syndrome 3
img HP RolledUp, OMIM ID: 606995
HumanBBS12166379Bardet-Biedl syndrome 12
img HP RolledUp, OMIM ID: 209900
HumanCLDN19149461claudin 19
img HP RolledUp, OMIM ID: 248190
HumanSIX5147912SIX homeobox 5
img HP RolledUp, OMIM ID: 610896
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000082Abnormality of renal physiology0self